Wednesday, 22nd June, 2022
14:00 |
Registration |
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16:00 |
Opening |
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16:30 |
Keynote Lecture |
Advance in Fukuyama muscular dystrophy & dystroglycanopathy |
Tatsushi Toda |
17:15 |
Keynote Lecture |
Exon skipping therapy to Duchenne muscular dystrophy |
Shin’ichi Takeda |
18:00 |
Peter Harper Memorial Lecture |
Peter Harper, Myotonic Dystrophy and Me |
David Brook, Mark Rogers, Margaret Bowler |
19:00- 20:00 |
Organization Updates |
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Report on International DM Awareness Day |
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Thursday, 23rd June, 2022
8:30 |
Keynote Lecture |
Lesson from other expansion diseases, disease-modifying therapy for SBMA |
Gen Sobue |
Session 1: Repeat-Associated Pathomechanisms
1-1 Repeat instability
9:15 |
Overview: Repeat instability |
Christopher Pearson |
9:45 |
S1-1-1 |
Identification of CTG repeat contraction factors in myotonic dystrophy type 1 |
Laure de Pontual |
10:00 |
S1-1-2 |
CpG sites surrounding DMPK expansions are heterogeneously methylated in myotonic dystrophy type 1 patients with variant repeats |
Jovan Pesovic |
1-2 RNA-mediated mechanism
10:15 |
Overview: RNA-mediated mechanisms |
Repeat-mediated pathomechanisms |
Maurice Swanson |
11:00: Break
11:15 |
S1-2-1 |
RNA subcellular mislocalization in DM1 patient iPSC-derived neurons |
Maya L Gosztyla |
11:30 |
S1-2-2 |
Compensatory mechanism of MBNL paralogs |
Larissa Nitschke |
11:45 |
S1-2-3 |
miR-1 and its target Multiplexin are involved in DM1-associated dilated cardiomyopathy |
Anissa Souidi |
12:00 |
S1-2-4 |
Analysis of DMPK expansion transcript degradation and MBNL-RNA binding kinetics in DM1 |
Xiaomeng Xing |
12:15 Lunch
13:15 |
S1-2-5 |
Congenital myotonic dystrophy patients exhibit unique patterns of transcriptomic dysregulation independent of CTG repeat expansion |
Melissa Ann Hale |
13:30 |
S1-2-6 |
Multivalency of MBNL is essential for CUG foci formation in DM1 |
Chase P Kelley |
13:45 |
S1-2-7 |
Identification of NIPP1 as a modifier of RNA foci formation |
Yoshihiro Kino |
1-3 Cell/organoids and animal models
14:00 |
S1-3-1 |
Expanded CUG repeat RNA induces premature senescence in myotonic dystrophy |
Yuhei Hasuike |
14:15 |
S1-3-2 |
Manipulating expanded DMPK expression using CRISPRi/a |
Lise Ripken |
14:30 |
S1-3-3 |
Generation and Characterization of a DM2 BAC Mouse Model |
Avery Christian Engelbrecht |
14:45 Break
1-4 Tissue specific mechanisms
15:00 |
S1-4-1 |
MBNL loss of function in the motor unit alters neuromuscular communication |
Charles Frison-Roche |
15:15 |
S1-4-2 |
Choroid Plexus Spliceopathy in DM1 |
Benjamin Martin Kidd |
15:30 |
S1-4-3 |
Cell type-specific abnormalities of central nervous system in myotonic dystrophy type 1 |
Masayuki Nakamori |
15:45 |
S1-4-4 |
Sense and antisense RAN proteins accumulate in DM1 brain regions with pathological changes |
Monica Banez-Coronel |
16:00 |
Mini Lecture |
Small Molecules targeting Repeat Sequences causing Neurological Disorders |
Kazuhiko Nakatani |
16:30 Break
Session 2: Clinical Aspects
2-1 Specific disease features
16:45 |
S2-1-1 |
An International Consensus Document on Evaluation and Management of Arrhythmias in Myotonic Dystrophy |
William J. Groh |
17:00 |
S2-1-2 |
A decade follow-up study of Premanifest DM1: a molecular, muscular and CNS approach |
Joana Garmendia |
17:15 |
S2-1-3 |
An integrative analysis of DNA methylation pattern in Myotonic Dystrophy Type 1 samples reveals a distinct DNA methylation profile between tissues and a dual muscle-associated epigenetic dysregulation |
Monica Suelves |
17:30 |
S2-1-4 |
Independence of Adults with Childhood Phenotype of Myotonic Dystrophy Type 1 |
Samar Muslemani |
17:45 |
S2-1-5 |
TREAT-NMD Myotonic Dystrophy Global Registry Network: An International Collaboration in Myotonic Dystrophy Type 2 |
Stojan Peric |
18:00 Break
2-2 Biomarkers, outcome measures, trial design, etc
18:15 |
S2-2-1 |
Longitudinal changes in neuropsychological functioning in Japanese patients with myotonic dystrophy type 1: A 5-year follow-up study |
Haruo Fujino |
18:30 |
S2-2-2 |
Blood based biomarker discovery in DM1 |
Daniel van As |
18:45 |
S2-2-3 |
miR-223-3p and miR-24-3p as novel serum-based biomarkers for Myotonic Dystrophy type 1 |
Leonidas A. Phylactou |
19:00 |
S2-2-4 |
Myotonic dystrophy type I Tau PET imaging and exploratory study of CSF and plasma biomarkers of neurodegeneration from neurocognitively characterized DM1 patients |
Nicolas Sergeant |
19:15 |
S2-2-5 |
Analysis of circulating myomiRs as potential biomarkers of progression of muscular impairment in myotonic dystrophy type 1 patients |
Nemanja Radovanovic |
19:30- 20:00 |
Overview: Clinical aspect |
Baziel van Engelen |
Friday, 24th June, 2022
Session 3: Therapeutic Strategies and Targets
8:30 |
S3-01 |
Whole transcriptome analysis and functional studies reveal that senescence plays a role in Myotonic Dystrophy type 1 |
Ander Matheu |
8:45 |
S3-02 |
Correction of Clcn1 mis-splicing reverses muscle fiber type transition in mice with myotonic dystrophy |
Ningyan Hu |
9:00 |
S3-03 |
The ReCognitION project: Recognition and Validation of Druggable Targets from the Response to Cognitive Behavioural Therapy in Myotonic Dystrophy type 1 patients from Integrated -Omics Networks |
Peter-Bram ‘t Hoen |
9:15 |
S3-04 |
Identifying potential lead molecules that eliminate toxic nuclear foci in DM1 |
Anjani Kumari |
9:30 |
S3-05 |
A CTG repeat-selective screen of a natural product library reveals dietary natural compounds as potential therapeutics for Myotonic Dystrophy. |
Subodh K Mishra |
9:45 |
S3-06 |
Repeat dosing with DYNE-101 is well tolerated and leads to a sustained reduction of DMPK RNA expression in key muscles for DM1 pathology in hTfR1/DMSXL mice and NHPs |
Stefano Zanotti |
10:00 Break
10:15 |
S3-07 |
Elimination of defective muscle stem cells to restore myogenesis in Myotonic Dystrophy type 1. |
Nicolas Dumont |
10:30 |
S3-08 |
Comprehensive transcriptomic characterization of antisense RNA treatments effects on Myotonic dystrophy type 1 cell models |
Jorge Patricio Espinosa |
10:45 |
S3-09 |
EEV-Conjugated Oligonucleotide Results in Nuclear Foci Reduction and Aberrant Splicing Correction in DM1 Cell and Animal Models |
Mahasweta Girgenrath |
11:00 |
S3-10 |
A Phase 1/2 Trial Evaluating the Safety and Pharmacokinetics (PK) of AOC 1001 in Adults with DM1: MARINA Study Design |
Nicholas Johnson |
11:15 |
S3-11 |
Decoy gene therapy to reverse RNA toxicity in DM1 |
Denis Furling |
11:30- 12:00 |
Closing |
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Saturday, June 25, 2022
9:00- 12:30 IDMC-13 Families Day Webinar “Clinical trials have already begun”
AMO Pharma |
AMO-02 for congenital myotonic dystrophy: an update on progress |
Mike Snape |
Avidity Biosciences |
Avidity: Ongoing Clinical Trial for DM1 |
Lisa Ackermann, PhD, SVP Clinical Development. |
Dyne Therapeutics |
Advancing The Treatment Paradigm for Myotonic Dystrophy Type 1 |
Molly White, Vice President, Global Head of Patient Advocacy and Engagement |
Department of Neurology, Osaka University Graduate School of Medicine |
An investigator-initiated clinical trial (MYD-0124) for treatment of myotonic dystrophy in Japan |
Masayuki Nakamori, MD., Ph. D. |
National Hospital Organization Niigata National Hospital, National Hospital Organization Sendai-Nishitaga Hospital |
Innovative motor learning therapy with the wearable cyborg Hybrid Assistive Limb, HAL for neuromuscular diseases, including myotonic dystrophy |
Takashi Nakajima, MD., Ph. D. and Toshiaki Takahashi, MD., Ph. D. |
Houston Methodist Neuroscience Research Program |
Clinical Trials in Myotonic Dystrophy and Beyond |
Tetsuo Ashizawa, M.D. |
https://idmc13.dm-family.net/en/